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Matthew Hurles
Matthew Edward Hurles is head of human genetics at the Wellcome Sanger Institute and an honorary professor of Human Genetics and Genomics at the University of Cambridge. Education Hurles was educated at the University of Oxford where he was awarded a Bachelor of Arts degree in Biochemistry. He completed his PhD in 1999 on the genetics of the Y chromosome at the University of Leicester supervised by Research and career Hurles research investigates the causes and consequences of new mutations as DNA is passed from one generation to the next. He is best known for his work on characterizing the extent and impact of structural variation in the human genome and on deciphering the genetic architecture of severe neurodevelopmental disorders. Hurles group has used large-scale genomic studies to highlight the predominant role that new mutations of many different types play in causing diverse developmental disorders and has led to the discovery of tens of previously unrecognised genetic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wellcome Sanger Institute
The Wellcome Sanger Institute, previously known as The Sanger Centre and Wellcome Trust Sanger Institute, is a non-profit British genomics and genetics research institute, primarily funded by the Wellcome Trust. It is located on the Wellcome Genome Campus by the village of Hinxton, outside Cambridge. It shares this location with the European Bioinformatics Institute. It was established in 1992 and named after double Nobel Laureate Frederick Sanger. It was conceived as a large scale DNA sequencing centre to participate in the Human Genome Project, and went on to make the largest single contribution to the gold standard sequence of the human genome. From its inception the institute established and has maintained a policy of data sharing, and does much of its research in collaboration. Since 2000, the institute expanded its mission to understand "the role of genetics in health and disease". The institute now employs around 900 people and engages in five main areas of research: C ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics ( phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultima ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fellows Of The Academy Of Medical Sciences (United Kingdom)
Fellows may refer to Fellow, in plural form. Fellows or Fellowes may also refer to: Places *Fellows, California, USA *Fellows, Wisconsin, ghost town, USA Other uses *Fellows Auctioneers, established in 1876. * Fellowes, Inc., manufacturer of workspace products *Fellows, a partner in the firm of English canal carriers, Fellows Morton & Clayton *Fellows (surname) See also *North Fellows Historic District The North Fellows Historic District is a historic district located in Ottumwa, Iowa, United States. The city experienced a housing boom after World War II. This north side neighborhood of single-family brick homes built between 1945 and 1959 ..., listed on the National Register of Historic Places in Wapello County, Iowa * Justice Fellows (other) {{disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fellows Of The Royal Society
Fellowship of the Royal Society (FRS, ForMemRS and HonFRS) is an award granted by the judges of the Royal Society of London to individuals who have made a "substantial contribution to the improvement of natural knowledge, including mathematics, engineering science, and medical science". Fellowship of the Society, the oldest known scientific academy in continuous existence, is a significant honour. It has been awarded to many eminent scientists throughout history, including Isaac Newton (1672), Michael Faraday (1824), Charles Darwin (1839), Ernest Rutherford (1903), Srinivasa Ramanujan (1918), Albert Einstein (1921), Paul Dirac (1930), Winston Churchill (1941), Subrahmanyan Chandrasekhar (1944), Dorothy Hodgkin (1947), Alan Turing (1951), Lise Meitner (1955) and Francis Crick (1959). More recently, fellowship has been awarded to Stephen Hawking (1974), David Attenborough (1983), Tim Hunt (1991), Elizabeth Blackburn (1992), Tim Berners-Lee (2001), Venki Ramakris ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fellow Of The Academy Of Medical Sciences
Fellowship of the Academy of Medical Sciences (FMedSci) is an award for medical scientists who are judged by the UK Academy of Medical Sciences The Academy of Medical Sciences is an organisation established in the UK in 1998. It is one of the four UK National Academies, the others being the British Academy, the Royal Academy of Engineering and the Royal Society. Its mission is to ad ... for the "excellence of their science, their contribution to medicine and society and the range of their achievements". Fellowship Fellows are entitled to use the post-nominal letters FMedSci; see :Fellows of the Academy of Medical Sciences (United Kingdom) for examples of fellows. References Fellows of learned societies of the United Kingdom Academy of Medical Sciences (United Kingdom) {{Award-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Creative Commons License
A Creative Commons (CC) license is one of several public copyright licenses that enable the free distribution of an otherwise copyrighted "work".A "work" is any creative material made by a person. A painting, a graphic, a book, a song/lyrics to a song, or a photograph of almost anything are all examples of "works". A CC license is used when an author wants to give other people the right to share, use, and build upon a work that the author has created. CC provides an author flexibility (for example, they might choose to allow only non-commercial uses of a given work) and protects the people who use or redistribute an author's work from concerns of copyright infringement as long as they abide by the conditions that are specified in the license by which the author distributes the work. There are several types of Creative Commons licenses. Each license differs by several combinations that condition the terms of distribution. They were initially released on December 16, 2002, by ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Royal Society
The Royal Society, formally The Royal Society of London for Improving Natural Knowledge, is a learned society and the United Kingdom's national academy of sciences. The society fulfils a number of roles: promoting science and its benefits, recognising excellence in science, supporting outstanding science, providing scientific advice for policy, education and public engagement and fostering international and global co-operation. Founded on 28 November 1660, it was granted a royal charter by King Charles II as The Royal Society and is the oldest continuously existing scientific academy in the world. The society is governed by its Council, which is chaired by the Society's President, according to a set of statutes and standing orders. The members of Council and the President are elected from and by its Fellows, the basic members of the society, who are themselves elected by existing Fellows. , there are about 1,700 fellows, allowed to use the postnominal title FRS ( Fellow of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disease
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurodevelopmental Disorder
Neurodevelopmental disorders are a group of disorders that affect the development of the nervous system, leading to abnormal brain function which may affect emotion, learning ability, self-control, and memory. The effects of neurodevelopmental disorders tend to last for a person's lifetime. Types Neurodevelopmental disorders are impairments of the growth and development of the brain and/or central nervous system. A narrower use of the term refers to a disorder of brain function that affects emotion, learning ability, self-control and memory which unfolds as an individual develops and grows. According to the DSM-5, the neurodevelopmental disorders include the following: # Attention deficit hyperactivity disorder (ADHD) # DLD - Developmental language disorder (formerly known as SLI- Specific Language Impairment) # Communication, speech, or language disorders, expressive language disorder, fluency disorder, social (pragmatic) communication disorder, and speech sound disor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Genome
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs. It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles, such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly-repetitive sequences. Introns make up a large percentage of non-coding DN ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Structural Variation
Genomic structural variation is the variation in structure of an organism's chromosome. It consists of many kinds of variation in the genome of one species, and usually includes microscopic and submicroscopic types, such as deletions, duplications, copy-number variants, insertions, inversions and translocations. Originally, a structure variation affects a sequence length about 1kb to 3Mb, which is larger than SNPs and smaller than chromosome abnormality (though the definitions have some overlap). However, the operational range of structural variants has widened to include events > 50bp. The definition of structural variation does not imply anything about frequency or phenotypical effects. Many structural variants are associated with genetic diseases, however many are not. Recent research about SVs indicates that SVs are more difficult to detect than SNPs. Approximately 13% of the human genome is defined as structurally variant in the normal population, and there are at least ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
